Canonical Allele Identifier: CA129692961
Gene: C5orf46 HGNC NCBI

Linked Data

dbSNP Id: rs115546176
gnomAD v2: 5-147234382-A-T
gnomAD v3: 5-147854819-A-T
gnomAD v4: 5-147854819-A-T
MyVariant Identifiers: chr5:g.147234382A>T (hg19) chr5:g.147854819A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.147854819A>T , CM000667.2:g.147854819A>T GRCh38
NC_000005.9:g.147234382A>T , CM000667.1:g.147234382A>T GRCh37
NC_000005.8:g.147214575A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017009459.1:c.261-4277T>A XP_016864948.1:n.261-4277T>A
Search 100 bp 5'
Search 100 bp 3'